Varaico: Literature-Extracted Genetic Variants

SOX2

696 papers

RefSeq Summary

This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The pr...

Pfam Domains

HMG_boxaa 41–109UCSCHMG (high mobility group) box

SOXpaa 110–200UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 2

HGNC Previous Names

SRY (sex determining region Y)-box 2; SRY-box 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

13 papers

NM_003106.4

p.N24fs

c.70_71fs

Surrounding Variants

6 papers

NM_003106.4

p.N24fs

c.70_71fs

2 papers

NM_003106.4

p.N24insFs

c.71_72insG

1 paper

NM_003106.4

p.N24I

c.71A>T

1 paper

NM_003106.4

p.S25T

c.73T>A

2 papers

NM_003106.4

p.G23delFs

c.67delG

1 paper

NM_003106.4

p.T26P

c.76A>C

1 paper

NM_003106.4

p.T26A

c.76A>G

5 papers

NM_003106.4

p.G22S

c.64G>A

2 papers

NM_003106.4

p.T26I

c.77C>T

1 paper

NM_003106.4

p.G21R

c.61G>C

1 paper

NM_003106.4

p.A29_G32insFs

c.86_95dup10

1 paper

NM_003106.4

p.G21fs

c.61_62fs